TMEM43[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936094, LOC129936095 +647 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	ANKRD28, ARL8B +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	LOC129936377, LOC129936378 +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	ACAA1, ACVR2B +730 more	Copy number gain	See cases	GPathogenic
Select item 1703229	Single allele	HDAC11, LOC126806611 +244 more	Deletion	3p- syndrome	GPathogenic
Select item 684005	NM_001098502.2(CHCHD4):c.-104G>A	CHCHD4, TMEM43	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 679865	NM_024334.2(TMEM43):c.-300T>C	TMEM43	Single nucleotide variant	not provided	GBenign
Select item 1198821	NC_000003.12:g.14124933C>T	TMEM43	Single nucleotide variant	not provided	GLikely benign
Select item 417393	NC_000003.11:g.(?_14166440)_(14185180_?)dup	TMEM43	Duplication	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 1276969	NM_024334.2(TMEM43):c.-142G>A	TMEM43	Single nucleotide variant	not provided	GBenign
Select item 1288117	NM_024334.3(TMEM43):c.-31G>A	TMEM43	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1171304	NM_024334.3(TMEM43):c.-15G>A	TMEM43	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 3070227	NM_024334.3(TMEM43):c.-13G>C	TMEM43	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3073561	NM_024334.3(TMEM43):c.-12C>T	TMEM43	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 513014	NM_024334.3(TMEM43):c.-11C>T	TMEM43	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 3073316	NM_024334.3(TMEM43):c.-10G>C	TMEM43	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 619948	NM_024334.3(TMEM43):c.-6C>T	TMEM43	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 5 +1 more	GConflicting classifications of pathogenicity
Select item 264209	NM_024334.3(TMEM43):c.-4C>T	TMEM43	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 926827	NM_024334.3(TMEM43):c.-3A>G	TMEM43	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 626716	NM_024334.3(TMEM43):c.-3A>T	TMEM43	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 5 +1 more	GBenign/Likely benign
Select item 382350	NM_024334.3(TMEM43):c.-2C>T	TMEM43	Single nucleotide variant (5 prime UTR variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 519307	NM_024334.3(TMEM43):c.1A>G (p.Met1Val)	TMEM43 (M1V)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 5 +3 more	GUncertain significance
Select item 1331778	NM_024334.3(TMEM43):c.2T>A (p.Met1Lys)	TMEM43 (M1K)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 3074928	NM_024334.3(TMEM43):c.3G>A (p.Met1Ile)	TMEM43 (M1I)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 1041251	NM_024334.3(TMEM43):c.4G>C (p.Ala2Pro)	TMEM43 (A2P)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 921537	NM_024334.3(TMEM43):c.6C>A (p.Ala2=)	TMEM43	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 2416776	NM_024334.3(TMEM43):c.7G>A (p.Ala3Thr)	TMEM43 (A3T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 3069847	NM_024334.3(TMEM43):c.8C>G (p.Ala3Gly)	TMEM43 (A3G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2804287	NM_024334.3(TMEM43):c.11A>T (p.Asn4Ile)	TMEM43 (N4I)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 924325	NM_024334.3(TMEM43):c.12+1G>A	TMEM43	Single nucleotide variant (splice donor variant)	Cardiomyopathy	GUncertain significance
Select item 2788013	NM_024334.3(TMEM43):c.12+2T>C	TMEM43	Single nucleotide variant (splice donor variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 1364502	NM_024334.3(TMEM43):c.12+4A>C	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 2150007	NM_024334.3(TMEM43):c.12+16C>T	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 1181585	NM_024334.3(TMEM43):c.12+34G>C	TMEM43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672164	NM_024334.3(TMEM43):c.12+130C>T	TMEM43	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672172	NM_024334.3(TMEM43):c.12+167C>T	TMEM43	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283024	NM_024334.3(TMEM43):c.12+280_12+281dup	TMEM43	Duplication (intron variant)	not provided	GBenign
Select item 1695064	NM_024334.3(TMEM43):c.13-519G>A	TMEM43	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1701452	NM_024334.3(TMEM43):c.13-517A>G	TMEM43	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203620	NM_024334.3(TMEM43):c.13-328C>T	TMEM43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280412	NM_024334.3(TMEM43):c.13-79_13-78dup	TMEM43	Duplication (intron variant)	not provided	GBenign
Select item 1234237	NM_024334.3(TMEM43):c.13-78dup	TMEM43	Duplication (intron variant)	not provided	GBenign
Select item 1293282	NM_024334.3(TMEM43):c.13-78del	TMEM43	Deletion (intron variant)	not provided	GBenign
Select item 1286323	NM_024334.3(TMEM43):c.13-79_13-78del	TMEM43	Deletion (intron variant)	not provided	GBenign
Select item 1203076	NM_024334.3(TMEM43):c.13-81_13-78del	TMEM43	Deletion (intron variant)	not provided	GLikely benign
Select item 1645126	NM_024334.3(TMEM43):c.13-4T>C	TMEM43	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2774585	NM_024334.3(TMEM43):c.13-3C>T	TMEM43	Single nucleotide variant (intron variant)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 1996378	NM_024334.3(TMEM43):c.13-2A>C	TMEM43	Single nucleotide variant (splice acceptor variant +1 more)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 1172220	NM_024334.3(TMEM43):c.13-1G>C	TMEM43	Single nucleotide variant (splice acceptor variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 179967	NM_024334.3(TMEM43):c.13T>C (p.Tyr5His)	TMEM43 (Y5H)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1773972	NM_024334.3(TMEM43):c.14A>G (p.Tyr5Cys)	TMEM43 (Y5C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1780356	NM_024334.3(TMEM43):c.17C>G (p.Ser6Cys)	TMEM43 (S6C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1784148	NM_024334.3(TMEM43):c.19A>G (p.Ser7Gly)	TMEM43 (S7G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2974762	NM_024334.3(TMEM43):c.21T>C (p.Ser7=)	TMEM43	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 661757	NM_024334.3(TMEM43):c.21T>G (p.Ser7Arg)	TMEM43 (S7R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 1802375	NM_024334.3(TMEM43):c.23C>A (p.Thr8Asn)	TMEM43 (T8N)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2774586	NM_024334.3(TMEM43):c.25A>C (p.Ser9Arg)	TMEM43 (S9R)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 928227	NM_024334.3(TMEM43):c.25A>G (p.Ser9Gly)	TMEM43 (S9G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5 +1 more	GLikely benign
Select item 1463673	NM_024334.3(TMEM43):c.26G>A (p.Ser9Asn)	TMEM43 (S9N)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 1171291	NM_024334.3(TMEM43):c.26G>C (p.Ser9Thr)	TMEM43 (S9T)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 921589	NM_024334.3(TMEM43):c.27T>C (p.Ser9=)	TMEM43	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 703742	NM_024334.3(TMEM43):c.30C>T (p.Thr10=)	TMEM43	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 928295	NM_024334.3(TMEM43):c.31C>G (p.Arg11Gly)	TMEM43 (R11G)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 629431	NM_024334.3(TMEM43):c.31C>T (p.Arg11Trp)	TMEM43 (R11W)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 343499	NM_024334.3(TMEM43):c.32G>A (p.Arg11Gln)	TMEM43 (R11Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 629360	NM_024334.3(TMEM43):c.35G>A (p.Arg12Lys)	TMEM43 (R12K)	Single nucleotide variant (missense variant)	Cardiomyopathy	GLikely benign
Select item 1080078	NM_024334.3(TMEM43):c.39A>G (p.Glu13=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2175075	NM_024334.3(TMEM43):c.40C>T (p.His14Tyr)	TMEM43 (H14Y)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 1738635	NM_024334.3(TMEM43):c.41A>G (p.His14Arg)	TMEM43 (H14R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2774587	NM_024334.3(TMEM43):c.42T>A (p.His14Gln)	TMEM43 (H14Q)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 741775	NM_024334.3(TMEM43):c.42T>C (p.His14=)	TMEM43	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 518621	NM_024334.3(TMEM43):c.45C>G (p.Val15=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5 +2 more	GLikely benign
Select item 178137	NM_024334.3(TMEM43):c.45C>A (p.Val15=)	TMEM43	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 926230	NM_024334.3(TMEM43):c.47A>G (p.Lys16Arg)	TMEM43 (K16R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5 +1 more	GConflicting classifications of pathogenicity
Select item 628667	NM_024334.3(TMEM43):c.47A>T (p.Lys16Ile)	TMEM43 (K16I)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5 +1 more	GUncertain significance
Select item 2879665	NM_024334.3(TMEM43):c.48A>G (p.Lys16=)	TMEM43	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 924507	NM_024334.3(TMEM43):c.48A>C (p.Lys16Asn)	TMEM43 (K16N)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 575697	NM_024334.3(TMEM43):c.49G>A (p.Val17Ile)	TMEM43 (V17I)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5 +1 more	GConflicting classifications of pathogenicity
Select item 918692	NM_024334.3(TMEM43):c.50T>C (p.Val17Ala)	TMEM43 (V17A)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1379055	NM_024334.3(TMEM43):c.66_67insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAACCAGCTCCCAG (p.Pro23delinsAlaGlyArgGlyGlySerArgLeuTer)	TMEM43	Microsatellite (nonsense)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 46145	NM_024334.3(TMEM43):c.51T>G (p.Val17=)	TMEM43	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2879666	NM_024334.3(TMEM43):c.55del (p.Thr19fs)	TMEM43 (T19fs)	Deletion (frameshift variant +1 more)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 578691	NM_024334.3(TMEM43):c.53A>G (p.Lys18Arg)	TMEM43 (K18R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5 +1 more	GUncertain significance
Select item 2870736	NM_024334.3(TMEM43):c.57C>G (p.Thr19=)	TMEM43	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2837760	NM_024334.3(TMEM43):c.59G>A (p.Ser20Asn)	TMEM43 (S20N)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 1493373	NM_024334.3(TMEM43):c.59G>C (p.Ser20Thr)	TMEM43 (S20T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2779537	NM_024334.3(TMEM43):c.60C>T (p.Ser20=)	TMEM43	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 2884872	NM_024334.3(TMEM43):c.62C>G (p.Ser21Cys)	TMEM43 (S21C)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 202136	NM_024334.3(TMEM43):c.62C>T (p.Ser21Phe)	TMEM43 (S21F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 917622	NM_024334.3(TMEM43):c.64C>T (p.Gln22Ter)	TMEM43 (Q22*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 466422	NM_024334.3(TMEM43):c.65dup (p.Pro23fs)	TMEM43 (P23fs)	Duplication (frameshift variant)	not provided +2 more	GUncertain significance
Select item 2702149	NM_024334.3(TMEM43):c.65A>G (p.Gln22Arg)	TMEM43 (Q22R)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 699671	NM_024334.3(TMEM43):c.69A>C (p.Pro23=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 1397532	NM_024334.3(TMEM43):c.77T>C (p.Leu26Pro)	TMEM43 (L26P)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance
Select item 1147435	NM_024334.3(TMEM43):c.78G>A (p.Leu26=)	TMEM43	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 5	GLikely benign
Select item 46153	NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp)	TMEM43 (R28W)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5 +7 more	GBenign/Likely benign
Select item 1370220	NM_024334.3(TMEM43):c.83G>C (p.Arg28Pro)	TMEM43 (R28P)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 5	GUncertain significance

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